Metabolic Diseases Laboratory
The Metabolic Diseases laboratory in the Division of Clinical Biochemistry is dedicated to service, education and research in the diagnosis and treatment of inborn errors of metabolism.
The majority of these disorders present in childhood and patients are often initially diagnosed with some other condition.
Laboratory personnel possess a high level technical and interpretive skills and are equipped to handle a broad spectrum of disorders with special emphasis on:
- Amino acidurias.
- Organic acidurias
- Glycogen storage and fatty acid oxidation disorders
- Lysosomal storage diseases
Methodologies in use include:
- Tandem mass spectrometry
- Gas chromatography-mass spectrometry
- Thin layer chromatography
- Colorimetric, fluorimetric and radioisotopic analyte and enzyme assays using a variety of tissue sources such as:
- blood
- urine
- cerebrospinal fluid
- cultured cells
- biopsy specimens
We are certified as a Tay-Sachs screening centre (NTSAD) and participate in ERNDIM and CDC international quality assurance programmes. Prenatal diagnosis of certain conditions is offered.
Research interests include:
- Molecular and biochemical bases of lysosomal storage diseases
- Intermediary metabolism
- Energy metabolism
- Mitochondrial disorders.
Services available
The broad range of services available in the Metabolic Diseases Laboratory at SickKids is structured in a representative presentation on test services section.
Although comprehensive, they do not embrace all possible inborn errors of metabolism. To obviate this, we offer advice and can expedite contact with testing services available in other Canadian, U.S. and other foreign centres.
Lianna Kyriakopoulou
Clinical Biochemist, Metabolic Diseases Laboratory
Paediatric Laboratory Medicine
The Hopsital for Sick Children
Phone: 416-813-8066
email: lianna.kyriakopoulou@sickkids.ca